Objective: To present perinatal findings, modes of ascertainments, and modes of segregation in unbalanced reciprocal translocations detected at amniocentesis.
Materials And Methods: Between January 1987 and July 2010, 40 cases with unbalanced reciprocal translocations were diagnosed by amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. The 40 cases originated from 29 families; 21 families with one case, 7 families with two cases, and 1 family with five cases.
Results: Of 40 cases, 33 (82.5%) presented fetal ultrasound abnormalities and 7 (17.5%) presented no ultrasound abnormalities. Of 40 cases, 36 (90%) had a segregation mode of adjacent-1 2:2 segregation, 3 (7.5%) had a segregation mode of 3:1 segregation with tertiary trisomy, and 1 (2.5%) had a segregation mode of 3:1 segregation with tertiary monosomy. Of 29 families, 7 (24.1%) had de novo translocations and 22 (75.9%) had inherited translocations. In seven de novo cases, the main modes of ascertainments included abnormal ultrasound findings (n = 5) and advanced maternal age (n = 2). In 22 inherited families, the main modes of first ascertainment included abnormal ultrasound findings (n = 8), a previous aneuploid child (n = 8), advanced maternal age (n = 4), parental carrier status (n = 1), and abnormal maternal serum screening results (n = 1). Among 22 inherited families, 9 (40.9%) had a known parental carrier status, but 13 (59.1%) were unaware of parental carrier status at amniocentesis.
Conclusion: Unbalanced reciprocal translocations detected at amniocentesis are frequently associated with abnormal ultrasound findings. Prenatal diagnosis of an unbalanced translocation may incidentally detect a balanced translocation in the family. Prenatal diagnosis of fetal structural abnormalities should alert structural chromosome rearrangements and prompt cytogenetic analysis of the fetus and parents if necessary.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.tjog.2011.02.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.
Medicina (Kaunas)
October 2024
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g.
View Article and Find Full Text PDFInherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis.
Genes (Basel)
November 2024
AMES, Polidiagnostic Strumental Centre, Srl, 80013 Naples, Italy.
Article Synopsis
- - A 37-year-old woman with a balanced reciprocal translocation was found to have a high-risk non-invasive prenatal screening test indicating potential chromosome 18 abnormalities during her 13th week of pregnancy.
- - Advanced techniques including cytogenetic analysis, FISH, and SNP-array were used to analyze her amniotic cells, revealing duplications on chromosome 18 and chromosome 9, suggesting aneuploidies.
- - The study emphasizes the importance of using a combination of NIPT and detailed cytogenetic approaches to accurately detect and confirm chromosomal anomalies in high-risk pregnancies.
Calcium Homeostasis Is Involved in the Modulation of Gene Expression by MSL2 in Imbalanced Genomes.
Cells
November 2024
Key Laboratory of Cell Proliferation and Regulatory Biology, Ministry of Education, College of Life Sciences, Beijing Normal University, Beijing 100875, China.
Aneuploidy is highly detrimental to organisms due to genomic imbalance. However, the influence of parental unbalanced genome conditions on gene expression of their offspring remains unclear, particularly in animals. To further explore the molecular regulatory mechanisms, we firstly analyzed the expression patterns of aneuploid offspring from different parents with unbalanced genomes via reciprocal crosses and studied the potential functions of male-specific lethal 2 (MSL2) in this process.
View Article and Find Full Text PDF'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations.
Prenat Diagn
November 2024
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.
Objective: To explore the experiences of people having cfDNA screening to detect unbalanced translocations, and to understand motivations for choosing this option.
Methods: We used a qualitative approach with in-depth semi-structured interviews with reciprocal translocation carriers and their partners. People who underwent cfDNA screening with translocation analysis through Victorian Clinical Genetics Services between 2015 and 2019 were invited to take part.
First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- A case study discussed the use of expanded non-invasive prenatal testing (NIPT) to detect 1p36 deletion syndrome in a 37-year-old woman undergoing pregnancy via in vitro fertilization.* -
- The NIPT was positive for a genetic issue at 13 weeks, but tragically, the pregnancy ended with intrauterine fetal death after a follow-up amniocentesis, which confirmed chromosomal abnormalities.* -
- The findings highlight the efficacy of NIPT for early detection of genetic disorders, specifically familial unbalanced reciprocal translocation, which can aid in prenatal genetic counseling.*
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!